Современные тенденции в диагностике, скрининге и лечении спинальной мышечной атрофии

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Современные тенденции в диагностике, скрининге и лечении спинальной мышечной атрофии. / Maretina, M. A.; Kiselev, A. V.; Ilina, A. V.; Egorova, A. A.; Glotov, A. S.; Bespalova, O. N.; Baranov, V. S.; Kogan, I. Yu.

In: Vestnik Rossiiskoi Akademii Meditsinskikh Nauk, Vol. 77, No. 2, 26.05.2022, p. 87-96.

Research output: Contribution to journal › Article › peer-review

BibTeX

@article{7c5d58bdd628426497bff5c2c6586258,

title = "Современные тенденции в диагностике, скрининге и лечении спинальной мышечной атрофии",

abstract = "Spinal muscular atrophy is one of the most severe hereditary neuromuscular diseases and one of the main causes of infant mortality caused by hereditary diseases. Being a monogenic disease, SMA is characterized by a wide range of phenotypes, which are based on the influence of genetic modifiers of the disease. These modifiers determine the development of a more severe or milder form of the disease and can act as potential targets of disease therapy. To date, there are three certified drugs for the treatment of SMA, the action of two of them is directed at the transcript of the main modifier of the disease - the SMN2 gene. With the advent of effective therapy, the issue of screening newborns for the purpose of early detection of patients and the beginning of treatment of SMA at the presymptomatic phase to achieve maximum effectiveness of drugs becomes relevant. In addition to neonatal screening, population screening plays an important role, which may result in a decrease in the frequency of births of children with SMA.",

keywords = "diagnosis of diseases, neurodegenerative diseases, screening of diseases, Spinal muscular atrophy, therapy of genetic diseases, Spinal muscular atrophy, diagnosis of diseases, neurodegenerative diseases, screening of diseases, therapy of genetic diseases",

author = "Maretina, {M. A.} and Kiselev, {A. V.} and Ilina, {A. V.} and Egorova, {A. A.} and Glotov, {A. S.} and Bespalova, {O. N.} and Baranov, {V. S.} and Kogan, {I. Yu}",

year = "2022",

month = may,

day = "26",

doi = "10.15690/vramn1768",

language = "русский",

volume = "77",

pages = "87--96",

journal = "ВЕСТНИК РОССИЙСКОЙ АКАДЕМИИ МЕДИЦИНСКИХ НАУК",

issn = "0869-6047",

publisher = "Медицина",

number = "2",

}

RIS

TY - JOUR

T1 - Современные тенденции в диагностике, скрининге и лечении спинальной мышечной атрофии

AU - Maretina, M. A.

AU - Kiselev, A. V.

AU - Ilina, A. V.

AU - Egorova, A. A.

AU - Glotov, A. S.

AU - Bespalova, O. N.

AU - Baranov, V. S.

AU - Kogan, I. Yu

PY - 2022/5/26

Y1 - 2022/5/26

N2 - Spinal muscular atrophy is one of the most severe hereditary neuromuscular diseases and one of the main causes of infant mortality caused by hereditary diseases. Being a monogenic disease, SMA is characterized by a wide range of phenotypes, which are based on the influence of genetic modifiers of the disease. These modifiers determine the development of a more severe or milder form of the disease and can act as potential targets of disease therapy. To date, there are three certified drugs for the treatment of SMA, the action of two of them is directed at the transcript of the main modifier of the disease - the SMN2 gene. With the advent of effective therapy, the issue of screening newborns for the purpose of early detection of patients and the beginning of treatment of SMA at the presymptomatic phase to achieve maximum effectiveness of drugs becomes relevant. In addition to neonatal screening, population screening plays an important role, which may result in a decrease in the frequency of births of children with SMA.

AB - Spinal muscular atrophy is one of the most severe hereditary neuromuscular diseases and one of the main causes of infant mortality caused by hereditary diseases. Being a monogenic disease, SMA is characterized by a wide range of phenotypes, which are based on the influence of genetic modifiers of the disease. These modifiers determine the development of a more severe or milder form of the disease and can act as potential targets of disease therapy. To date, there are three certified drugs for the treatment of SMA, the action of two of them is directed at the transcript of the main modifier of the disease - the SMN2 gene. With the advent of effective therapy, the issue of screening newborns for the purpose of early detection of patients and the beginning of treatment of SMA at the presymptomatic phase to achieve maximum effectiveness of drugs becomes relevant. In addition to neonatal screening, population screening plays an important role, which may result in a decrease in the frequency of births of children with SMA.

KW - diagnosis of diseases

KW - neurodegenerative diseases

KW - screening of diseases

KW - Spinal muscular atrophy

KW - therapy of genetic diseases

KW - Spinal muscular atrophy

KW - diagnosis of diseases

KW - neurodegenerative diseases

KW - screening of diseases

KW - therapy of genetic diseases

UR - http://www.scopus.com/inward/record.url?scp=85132213147&partnerID=8YFLogxK

UR - https://www.mendeley.com/catalogue/8f0e21d0-5d7f-3359-bf5b-731c2722915a/

U2 - 10.15690/vramn1768

DO - 10.15690/vramn1768

M3 - статья

AN - SCOPUS:85132213147

VL - 77

SP - 87

EP - 96

JO - ВЕСТНИК РОССИЙСКОЙ АКАДЕМИИ МЕДИЦИНСКИХ НАУК

JF - ВЕСТНИК РОССИЙСКОЙ АКАДЕМИИ МЕДИЦИНСКИХ НАУК

SN - 0869-6047

IS - 2

ER -

ID: 99962710